1,920 results match your criteria Pseudohypoparathyroidism


A registry for patients with chronic hypoparathyroidism in Russian adults.

Endocr Connect 2020 Jun 1. Epub 2020 Jun 1.

Z Belaya, Neuroendocrinology and bone disease, Endocrinology Research Centre, Moscow, 117036, Russian Federation.

Hypoparathyroidism and pseudohypoparathyroidism are rare endocrine disorders, characterized by low serum calcium due to inappropriate parathyroid hormone (PTH) levels or resistance to its action. There is little epidemiological information regarding chronic hypoparathyroidism in Russia. This study aims to build a registry database of Russian patients with chronic hypoparathyroidism who were referred for hospital treatment in order to conduct initial analysis of clinical presentations and hospital management. Read More

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http://dx.doi.org/10.1530/EC-20-0219DOI Listing

Identification of a novel mutation in pseudohypoparathyroidism type Ia in a Chinese family: A case report.

Medicine (Baltimore) 2020 May;99(21):e19965

Department of Endocrinology, The Affiliated Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang Province, P.R. China.

Introduction: Pseudohypoparathyroidism (PHP) indicates a group of rare disorders characterized by end-organ resistance to various hormones, primarily parathyroid hormone (PTH). One of its most common type is PHP-Ia, which is caused by maternally inherited inactivating mutations in GNAS. In this report, we present a Chinese girl with typical features of PHP-Ia and a novel mutation of the GNAS gene. Read More

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http://dx.doi.org/10.1097/MD.0000000000019965DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249942PMC

Intragenic deletions of GNAS in pseudohypoparathyroidism type 1A identify a new region affecting methylation of exon A/B.

J Clin Endocrinol Metab 2020 May 21. Epub 2020 May 21.

Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA.

Context: Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by inactivating mutations in the exons of GNAS that encode the alpha-subunit of the stimulatory G protein (Gsα). In some cases abnormal methylation of exon A/B of GNAS, a hallmark of PHP1B, has been reported.

Objective: To identify the underlying genetic basis for PHP1A/PPHP in patients in whom molecular defects were not detected by GNAS sequencing and microarray-based analysis of copy number variations. Read More

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http://dx.doi.org/10.1210/clinem/dgaa286DOI Listing

Congenital Hypoparathyroidism Associated With Elevated Circulating Nonfunctional Parathyroid Hormone Due to Novel PTH Mutation.

J Clin Endocrinol Metab 2020 Jul;105(7)

Cancer Genetics, Kolling Institute of Medical Research, Sydney, North South Wales, Australia.

Context: Familial hypoparathyroidism has a heterogeneous presentation where patients usually have low parathyroid hormone (PTH) levels due to impaired production or secretion. This contrasts with pseudohypoparathyroidism, in which PTH resistance is usually associated with an elevated serum PTH. High levels of circulating PTH can also be due to bioinactive PTH, which is difficult to distinguish from pseudohypoparathyroidism on biochemical grounds. Read More

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http://dx.doi.org/10.1210/clinem/dgaa279DOI Listing

Manifestations of left ventricular dysfunction and arrhythmia in patients with chronic hypoparathyroidism and pseudohypoparathyroidism: a preliminary study.

BMC Endocr Disord 2020 May 11;20(1):61. Epub 2020 May 11.

Department of Endocrinology, Key Laboratory of Endocrinology of the Ministry of Health, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Dongcheng District, Shuaifuyuan No.1, Beijing, 100730, China.

Background: Cardiac damage triggered by severe hypocalcemia is well known. However, the role of chronic hypoparathyroidism (HP) and pseudohypoparathyroidism (PHP) in cardiac health is still unclear. We investigated the effect of chronic HP and PHP on cardiac structure and conductive function in patients compiling with treatment. Read More

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http://dx.doi.org/10.1186/s12902-020-0541-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7216721PMC

A novel long-range deletion spanning STX16 and NPEPL1 causing imprinting defects of the GNAS locus discovered in a patient with autosomal-dominant pseudohypoparathyroidism type 1B.

Endocrine 2020 Apr 26. Epub 2020 Apr 26.

Key Laboratory of Endocrinology of the Ministry of Health, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Science, Beijing, China.

Background: Pseudohypoparathyroidism (PHP) is a rare disorder characterized by hypocalcemia, hyperphosphatemia, and resistance to parathyroid hormone (PTH). According to different GNAS mutations, PHP is divided into several subtypes, among which autosomal-dominant PHP1B (AD-PHP1B) is caused by STX16 deletion and epigenetic alteration of GNAS. Although the deletion of STX16 exons 2-6 is commonly observed, other mutations involving STX16 can also result in AD-PHP1B. Read More

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http://dx.doi.org/10.1007/s12020-020-02304-6DOI Listing

, and Mutations and Methylation Changes Are Not a Common Cause of Isolated Early-Onset Severe Obesity Among Finnish Children.

Front Pediatr 2020 7;8:145. Epub 2020 Apr 7.

Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.

Pseudohypoparathyroidism type Ia (PHP1A) is caused by inactivating mutations involving exons 1-13, encoding the alpha-subunit of the stimulatory G protein (Gsα). Particularly PHP1A, but also other disorders involving the Gsα-cAMP-signaling pathway, have been associated with early-onset obesity. Thus, patients with mutations in the genes encoding PDE4D and PRKAR1A can also be obese. Read More

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http://dx.doi.org/10.3389/fped.2020.00145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7155765PMC

Cardiovascular consequences of parathyroid disorders in adults.

Ann Endocrinol (Paris) 2020 Feb 28. Epub 2020 Feb 28.

Department of Clinical Medicine, Aarhus University, Aarhus University Hospital, Aarhus, Denmark; Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark.

PTH is a metabolic active hormone primarily regulating calcium and phosphate homeostasis in a very tight and short term-manner. Parathyroid disorders in adult patients reflect a variety of different conditions related either to the parathyroid glands itself or to the effects of the secreted hormone. The clinical spectrum varies from the common disease primary hyperparathyroidism (PHPT) to the orphan conditions pseudohypoparathyroidism (Ps-HypoPT) and chronic hypoparathyroidism (HypoPT). Read More

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http://dx.doi.org/10.1016/j.ando.2020.02.003DOI Listing
February 2020

A paternally inherited non-sense variant c.424G>T (p.G142*) in the first exon of XLαs in an adult patient with hypophosphatemia and osteopetrosis.

Clin Genet 2020 May 22;97(5):712-722. Epub 2020 Mar 22.

Laboratory of Endocrinology and Metabolism, Department of Endocrinology, National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Chengdu, China.

XLαs, the extra-large isoform of alpha-subunit of the stimulatory guanine nucleotide-binding protein (Gsα), is paternally expressed. The significance of XLαs in humans remains largely unknown. Here, we report a patient who presented with increased bone mass, hypophosphatemia, and elevated parathyroid hormone (PTH) levels. Read More

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http://dx.doi.org/10.1111/cge.13734DOI Listing

Cutaneous nodules and a novel mutation in a Chinese boy with pseudohypoparathyroidism type Ia: A case report and review of literature.

World J Clin Cases 2020 Feb;8(3):587-593

Department of Genetics and Metabolism, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou 310052, Zhejiang Province, China.

Background: Pseudohypoparathyroidism type Ia (PHP Ia) is a rare hereditary syndrome, and patients with early PHP Ia are generally not diagnosed based on the presentation of cutaneous nodules as the main clinical feature. Here, we describe a Chinese boy with PHP Ia in whom the main clinical feature was cutaneous nodules, and the patient exhibited a novel mutation.

Case Summary: A 5-year-old boy presented with a 5-year history of cutaneous nodules scattered over his entire body. Read More

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http://dx.doi.org/10.12998/wjcc.v8.i3.587DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031840PMC
February 2020

Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.

Calcif Tissue Int 2020 Jan 22. Epub 2020 Jan 22.

Fujii Memorial Institute of Medical Sciences, Institute of Advanced Medical Sciences, Tokushima University, Tokushima, Japan.

Congenital diseases that could result in hyperphosphatemia at an early age include hyperphosphatemic familial tumoral calcinosis (HFTC)/hyperostosis-hyperphosphatemia syndrome (HHS) and congenital hypoparathyroidism/pseudohypoparathyroidism due to the insufficient activity of fibroblast growth factor (FGF) 23 and parathyroid hormone. HFTC/HHS is a rare autosomal recessive disease caused by inactivating mutations in the FGF23, UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) genes, resulting in the excessive cleavage of active intact FGF23 (FGF23, GALNT3) or increased resistance to the action of FGF23 (KL). Massive ectopic calcification, known as tumoral calcinosis (TC), is seen in periarticular soft tissues, typically in the hip, elbow, and shoulder in HFTC/HHS, reducing the range of motion. Read More

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http://dx.doi.org/10.1007/s00223-020-00659-6DOI Listing
January 2020

A severe inactivating PTH/PTHrP signaling disorder type 2 in a patient carrying a novel large deletion of the GNAS gene: a case report and review of the literature.

Endocrine 2020 Feb 14;67(2):466-472. Epub 2020 Jan 14.

Endocrine Unit 2, University Hospital of Pisa, Pisa, Italy.

Purpose: Pseudohypoparathyroidism (PHP), characterized by multihormone resistance and Albright's hereditary osteodystrophy (AHO), is caused by GNAS mutations. Whole or partial gene deletions are rare. All disorders due to inactivating mutations of the GNAS gene are now classified as "inactivating PTH/PTHrP signaling disorder type 2" (iPPSD2). Read More

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http://dx.doi.org/10.1007/s12020-020-02195-7DOI Listing
February 2020

Hypocalcemic Recurrent Generalized Seizures with Bilateral Basal Ganglia and Frontal Calcification as the Initial Manifestation of Albright's Hereditary Osteodystrophy in a Child: A Pictorial and Video-graphic Representations.

J Pediatr Neurosci 2019 Oct-Dec;14(4):232-235. Epub 2019 Dec 3.

Department of Neurology, Princess Esra Hospital (PEH), Deccan College of Medical Sciences (DCMS), Hyderabad, Telangana, India.

Albright hereditary osteodystrophy (AHO) is a hereditary metabolic disorder that presents with seizure secondary to hypocalcaemia. A careful phenotypic assessment of patients presenting with seizure clues to the diagnosis of AHO. The characteristic features are short stature,obesity and brachydactyly. Read More

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http://dx.doi.org/10.4103/jpn.JPN_86_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6935980PMC
December 2019

Pseudohypoparathyroidism: a missed window of treatment opportunity?

Acta Neurol Belg 2020 Jan 1. Epub 2020 Jan 1.

Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1007/s13760-019-01268-3DOI Listing
January 2020

Dental anomalies and orthodontic characteristics in patients with pseudohypoparathyroidism.

BMC Oral Health 2019 12 31;20(1). Epub 2019 Dec 31.

Section for Pediatric Dentistry, Department of Dentistry and Oral Health, Health, Aarhus University, Aarhus C, Denmark.

Background: Pseudohypoparathyroidism (PHP) is a rare and inherited disease caused by mutations in the GNAS-gene or upstream of the GNAS complex locus. It is characterized by end-organ resistance to PTH, resulting in hypocalcemia and hyperphosphatemia. We aimed to investigate the dental anomalies according to tooth types and the orthodontic characteristics of patients with PHP. Read More

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http://dx.doi.org/10.1186/s12903-019-0978-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6938634PMC
December 2019

Maternal Transmission Ratio Distortion of GNAS Loss-of-Function Mutations.

J Bone Miner Res 2020 May 13;35(5):913-919. Epub 2020 Jan 13.

Normandie Université, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center for Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, Caen, France.

Pseudohypoparathyroidism type 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are two rare autosomal dominant disorders caused by loss-of-function mutations in the imprinted Guanine Nucleotide Binding Protein, Alpha Stimulating Activity (GNAS) gene, coding G α. PHP1A is caused by mutations in the maternal allele and results in Albright's hereditary osteodystrophy (AHO) and hormonal resistance, mainly to the parathormone (PTH), whereas PPHP, with AHO features and no hormonal resistance, is linked to mutations in the paternal allele. This study sought to investigate parental transmission of GNAS mutations. Read More

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http://dx.doi.org/10.1002/jbmr.3948DOI Listing

A patient with extensive cerebral calcification due to pseudohypoparathyroidism: a case report.

BMC Endocr Disord 2019 Dec 19;19(1):142. Epub 2019 Dec 19.

Sri Jayawardenapura General Hospital, Thalapathpitiya, Nugegoda, Sri Lanka.

Background: Pseudohypoparathyroidism(PHP) is a heterogeneous group of disorders due to impaired activation of c AMP dependant pathways following binding of parathyroid hormone (PTH) to its receptor. In PHP end organ resistance to PTH results in hypocalcaemia, hyperphosphataemia and high PTH levels.

Case Presentation: A 59 year old male presented with a history of progressive impairment of speech and unsteadiness of gait for 1 week and acute onset altered behavior for 1 day and one episode of generalized seizure. Read More

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http://dx.doi.org/10.1186/s12902-019-0475-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6923949PMC
December 2019

Dental and craniofacial features associated with GNAS loss of function mutations.

Eur J Orthod 2019 Nov 7. Epub 2019 Nov 7.

APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme d'Expertise Maladies Rares Paêris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin Bicetre.

Background: Pseudohypoparathyroidism (PHP, OMIM #103580) is a very rare disease (incidence 0.3-1/100,000). Heterozygous inactivating mutations involving the maternal GNAS exons 1-13 that encodes the alpha subunit of the stimulatory G protein (Gsα) cause inactivating parathyroid hormone (PTH)/PTHrP signalling disorder type 2 (iPPSD2 or PHP type 1A), which is characterized by Albright hereditary osteodystrophy and resistance to multiple hormones that act through the Gsα signalling pathway (including PTH, thyroid-stimulating hormone, and α-melanocyte-stimulating hormone). Read More

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http://dx.doi.org/10.1093/ejo/cjz084DOI Listing
November 2019

Association of Pseudohypoparathyroidism and Autoimmune Polyglandular Syndrome: Causal or Coincidental?

Indian J Clin Biochem 2019 Oct 10;34(4):490-492. Epub 2018 Dec 10.

2Department of Endocrinology, PGIMER, Chandigarh, India.

Pseudohypoparathyroidism (PHP) is a state of parathyroid hormone resistance and is characterised by low serum calcium, and elevated serum phosphate and parathyroid hormone level. Association of PHP with autoimmune disorders is rare and seldom reported in the literature. Here we describe a case of PHP who subsequently developed multiple autoimmune disorders (type 3 polyglandular autoimmune syndrome), which has not been reported so far. Read More

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http://dx.doi.org/10.1007/s12291-018-0802-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6801268PMC
October 2019
1 Read

Craniosynostosis and metabolic bone disorder. A review.

Neurochirurgie 2019 Nov 25;65(5):258-263. Epub 2019 Sep 25.

Endocrinologie et diabète de l'enfant, filière OSCAR et plateforme d'expertise Paris Sud maladies rares, centre de référence des maladies rares du calcium et du phosphate, hôpital Bicêtre Paris Sud, AP-HP, 94270 Le Kremlin Bicêtre, France; Service de radiologie pédiatrique, université Paris-Saclay, hôpital Bicêtre, AP-HP, 94270 Le Kremlin Bicêtre, France; Inserm U1185, université Paris Sud Paris-Saclay, 94270 Le Kremlin Bicêtre, France.

Introduction: Some metabolic bone disorders may result in the premature closure of one or more calvarial sutures during childhood, potentially leading to a cranioencephalic disproportion. The aim of this paper is to review the characteristics and consequences of craniosynostosis associated with metabolic disorder.

Material And Methods: A review of the literature on metabolic forms of craniosynostosis was performed. Read More

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http://dx.doi.org/10.1016/j.neuchi.2019.09.008DOI Listing
November 2019
2 Reads

2q37 Deletions in Patients With an Albright Hereditary Osteodystrophy Phenotype and PTH Resistance.

Front Endocrinol (Lausanne) 2019 29;10:604. Epub 2019 Aug 29.

Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy.

Pseudohypoparathyroidism (PHP) is a rare endocrine disorder derived from the defective activation of the cAMP pathway by the parathyroid hormone secondary to GNAS molecular defects. PHP subtypes are defined by the presence/absence of specific clinical/biochemical features. PHP1A is characterized by resistance to multiple hormones with features of Albright hereditary osteodystrophy (AHO), while pseudopseudohypoparathyroidism (PPHP) is characterized by AHO in the absence of PTH resistance. Read More

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http://dx.doi.org/10.3389/fendo.2019.00604DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6727065PMC
August 2019
2 Reads

Clinical and Molecular Characteristics of GNAS Inactivation Disorders Observed in 18 Korean Patients.

Exp Clin Endocrinol Diabetes 2019 Sep 23. Epub 2019 Sep 23.

Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, Korea.

Background: The gene on chromosome 20q13.3 is a complex, imprinted locus regulated in a tissue-specific manner. inactivation disorders are a heterogeneous group of rare disorders caused by mutations and methylation defects. Read More

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http://dx.doi.org/10.1055/a-1001-3575DOI Listing
September 2019
1 Read

Pseudohypoparathyroidism: A case of hypocalcemia and hypothyroidism diagnosed during the postpartum period.

Authors:
K P Lim S L Yong

Malays Fam Physician 2019 30;14(1):31-34. Epub 2019 Apr 30.

MRCP (UK), Department of Medicine, Hospital Tengku Ampuan Rahimah Selangor, Malaysia.

We describe a 29-year-old Para 1 post-Emergency Lower Segment Caesarean Section (EMLSCS) for fetal distress and Preterm Rupture of the Membrane (PROM) referred by the Obstetric team for persistent bradycardia. She had the typical features of Albright's Hereditary Osteodystrophy (AHO). The laboratory investigation revealed hypocalcemia, hyperphosphatemia with a high Parathyroid hormone (PTH) level and low free Thyroxine 4 (fT4) with high Thyroid Stimulating Hormone (TSH). Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6612271PMC
April 2019
3 Reads

Resistance to GHRH but Not to PTH in a 15-Year-Old Boy With Pseudohypoparathyroidism 1A.

J Endocr Soc 2019 Jul 20;3(7):1383-1389. Epub 2019 May 20.

Pediatric Endocrinology and Diabetology, Children's Hospital, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.

Pseudohypoparathyroidism 1A (PHP1A) consists of signs of Albright hereditary osteodystrophy (AHO) and multiple, variable hormonal resistances. Elevated PTH levels are the biochemical hallmark of the disease. Short stature in PHP1A may be caused by a form of accelerated chondrocyte differentiation leading to premature growth plate closure, possibly in combination with GH deficiency in some patients. Read More

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http://dx.doi.org/10.1210/js.2019-00073DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6608559PMC
July 2019
3 Reads

Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features.

Neurol Sci 2019 Nov 2;40(11):2251-2263. Epub 2019 Jul 2.

Department "GF Ingrassia", Section Neuroscience, University of Catania, Via Santa Sofia 78, 95123, Catania, Italy.

Basal ganglia calcifications could be incidental findings up to 20% of asymptomatic patients undergoing CT or MRI scan. The presence of neuropsychiatric symptoms associated with bilateral basal ganglia calcifications (which could occur in other peculiar brain structures, such as dentate nuclei) identifies a clinical picture defined as Fahr's Disease. This denomination mainly refers to idiopathic forms in which no metabolic or other underlying causes are identified. Read More

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http://dx.doi.org/10.1007/s10072-019-03998-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6817747PMC
November 2019
3 Reads

Neonatal transient pseudohypoparathyroidism: could it be included among inactivating parathyroid hormone (PTH)/PTH-related protein signalling disorders?

Ann Pediatr Endocrinol Metab 2019 Jun 30;24(2):129-132. Epub 2019 Jun 30.

Division of Neonatology, Department of Pediatrics, Fondazione Policlinico Universitario "A. Gemelli" IRCSS - Catholic University of the Sacred Heart, Rome, Italy.

We report a case of transient pseudohypoparathyroidism in a full-term newborn that presented at 20 hours of life with hypocalcemic seizures, hyperphosphatemia and raised parathormone levels. The diagnosis of pseudohypoparathyroidism was made according to biochemical investigations. The infant was treated with calcium supplementation and vitamin D analog therapy, and he remained stable and symptom-free with normal serum biochemistries during follow-up. Read More

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http://dx.doi.org/10.6065/apem.2019.24.2.129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603610PMC
June 2019
5 Reads

A typical 22q11.2 deletion syndrome and pseudohypoparathyroidism: A CARE compliant case report.

Medicine (Baltimore) 2019 Jun;98(25):e16109

Department of Orthopaedics, The Second Affiliated Hospital of Nanchang University, Nanchang City, China.

Rationale: It is rare to find 22q11.2 deletion syndrome with pseudohypoparathyroidism in children. Furthermore, the phenotypic spectrum of this disorder varies widely. Read More

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http://dx.doi.org/10.1097/MD.0000000000016109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6636977PMC
June 2019
21 Reads

Neonatal osteoma cutis due to a mutation in GNAS.

Pediatr Dermatol 2019 Sep 18;36(5):732-734. Epub 2019 Jun 18.

The Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.

We describe a 4-week-old baby boy who presented with white firm cutaneous nodules and failure to thrive. He did not have dysmorphic features, and laboratory tests including serum calcium, phosphorous, thyroid function, and parathyroid hormone level were within normal ranges. Whole exome sequencing revealed an inactivating mutation in GNAS that was previously described as causing pseudohypoparathyroidism. Read More

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http://dx.doi.org/10.1111/pde.13879DOI Listing
September 2019
21 Reads

Management of pseudohypoparathyroidism.

Curr Opin Pediatr 2019 08;31(4):537-549

Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Center for Rare Bone Disorders and Albright Center, University of Connecticut School of Medicine, Connecticut Children's Medical Center, Farmington, Connecticut, USA.

Purpose Of Review: This review is timely given the 2018 publication of the first international Consensus Statement for the diagnosis and management of pseudohypoparathyroidism (PHP) and related disorders. The purpose of this review is to provide the knowledge needed to recognize and manage PHP1A, pseudopseudohypoparathyroidism (PPHP) and PHP1B - the most common of the subtypes - with an overview of the entire spectrum and to provide a concise summary of management for clinical use. This review will draw from recent literature as well as personal experience in evaluating hundreds of children and adults with PHP. Read More

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http://dx.doi.org/10.1097/MOP.0000000000000783DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6641088PMC
August 2019
5 Reads

A Case of Soft Tissue Ossifications: A Case Report.

JBJS Case Connect 2019 Apr-Jun;9(2):e0287

Dipartimento di Ortopedia e Traumatologia, Università degli Studi di Pavia, Pavia, Italy.

Case: A patient who had previously been diagnosed with fibrodysplasia ossificans progressiva was seen for hip pain and progressive soft tissue ossifications. Through a careful clinical examination, by which a subtype of brachydactyly was noted, the Albright hereditary osteodystrophy phenotype was recognized, and a new diagnosis of pseudopseudohypoparathyroidism was established. This paucisymptomatic condition often remains unidentified; however, its transmission can lead to more potentially serious diseases. Read More

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http://Insights.ovid.com/crossref?an=01709767-900000000-9979
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http://dx.doi.org/10.2106/JBJS.CC.18.00287DOI Listing
June 2020
8 Reads

A Framework for Approaching Refractory Hypocalcemia in Children.

Pediatr Ann 2019 May;48(5):e208-e211

Hypocalcemia is a potentially fatal electrolyte imbalance with complications that include seizures, tetany, prolonged QT interval, cardiomyopathy, and congestive heart failure. In chi dren, persistent hypocalcemia can also be detrimental to bone growth and health. Therefore, it is important to recognize the many ways this electrolyte imbalance may present and determine its etiology. Read More

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https://www.healio.com/doiresolver?doi=10.3928/19382359-2019
Publisher Site
http://dx.doi.org/10.3928/19382359-20190423-01DOI Listing
May 2019
11 Reads

Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders.

Am J Med Genet A 2019 07 1;179(7):1330-1337. Epub 2019 May 1.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge Biomedical Campus, Cambridge, UK.

Albright hereditary osteodystrophy (AHO) is a complex disorder defined by the presence of a short adult stature relative to the height of an unaffected parent and brachydactyly type E, as well as a stocky build, round face, and ectopic calcifications. AHO and pseudohypoparathyroidism (PHP) have been used interchangeably in the past. The term PHP describes end-organ resistance to parathyroid hormone (PTH), occurring with or without the physical features of AHO. Read More

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http://dx.doi.org/10.1002/ajmg.a.61163DOI Listing
July 2019
16 Reads
2.159 Impact Factor

Germline-Derived Gain-of-Function Variants of Gs-Coding Gene Identified in Nephrogenic Syndrome of Inappropriate Antidiuresis.

J Am Soc Nephrol 2019 05 8;30(5):877-889. Epub 2019 Apr 8.

Departments of Molecular Endocrinology,

Background: The stimulatory G-protein -subunit encoded by exons 1-13 (-Gs) mediates signal transduction of multiple G protein-coupled receptors, including arginine vasopressin receptor 2 (AVPR2). Various germline-derived loss-of-function -Gs variants of maternal and paternal origin have been found in pseudohypoparathyroidism type Ia and pseudopseudohypoparathyroidism, respectively. Specific somatic gain-of-function -Gs variants have been detected in McCune-Albright syndrome and may result in phosphate wasting. Read More

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http://dx.doi.org/10.1681/ASN.2018121268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6493982PMC
May 2019
10 Reads

Pseudohypoparathyroidism and Cardiomyopathy: A Case Report with a New Perspective on the Cardiovascular-Endocrine Axis with Respect to Calcium Homeostasis.

Authors:
Anum Fasih

Eur J Case Rep Intern Med 2019 15;6(2):000993. Epub 2019 Feb 15.

Department of Family Medicine, University of Illinois, College of Medicine, Peoria, IL, USA.

Pseudohypoparathyroidism encompasses a group of heterogeneous disorders defined by targeted organ unresponsiveness to parathyroid hormone (PTH). With an estimated prevalence of approximately 0.79 per 100,000, this is an extremely rare group of genetic disorders. Read More

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http://dx.doi.org/10.12890/2019_000993DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6432826PMC
February 2019
8 Reads

Impaired amygdala-based learning and decreased anxiety in a murine model of pseudohypoparathyroidism type 1A.

Behav Brain Res 2019 07 25;367:53-58. Epub 2019 Mar 25.

Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Pseudohypoparathyroidism type 1A (PHP1A) is a genetic disorder caused by maternally inherited mutations in the gene Gnas. PHP1A is characterized by multiple hormone impairment, early onset obesity and cognitive impairment. Animal models of PHP1A are needed to investigate the mechanism of cognitive impairment. Read More

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http://dx.doi.org/10.1016/j.bbr.2019.03.041DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6476654PMC
July 2019
11 Reads

High frequency of paternal iso or heterodisomy at chromosome 20 associated with sporadic pseudohypoparathyroidism 1B.

Bone 2019 06 21;123:145-152. Epub 2019 Mar 21.

Normandie Univ, UNICAEN, CHU de Caen Normandie, Department of Genetics, Reference Center fo Rare Diseases of Calcium and Phosphorus Metabolism, EA7450 BioTARGen, 14000 Caen, France. Electronic address:

Pseudohypoparathyroidism 1B (PHP1B) is caused by maternal epigenetic defects in the imprinted GNAS cluster. PHP1B can follow an autosomal dominant mode of inheritance or occur sporadically (spor-PHP1B). These latter patients present broad methylation changes of two or more differentially methylated regions (DMR) that, when mimicking the paternal allele, raises the suspicious of the occurrence of paternal uniparental disomy of chromosome 20 (upd(20)pat). Read More

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http://dx.doi.org/10.1016/j.bone.2019.03.023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6637416PMC
June 2019
6 Reads

The role of long non-coding RNAs in the pathogenesis of hereditary diseases.

BMC Med Genomics 2019 03 13;12(Suppl 2):42. Epub 2019 Mar 13.

Research Center for Medical Genetics, Moscow, Russia.

Background: Thousands of long non-coding RNA (lncRNA) genes are annotated in the human genome. Recent studies showed the key role of lncRNAs in a variety of fundamental cellular processes. Dysregulation of lncRNAs can drive tumorigenesis and they are now considered to be a promising therapeutic target in cancer. Read More

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http://dx.doi.org/10.1186/s12920-019-0487-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6416829PMC
March 2019
1 Read

Presentation of pseudohypoparathyroidism and pseudopseudohypoparathyroidism with skin lesions: Case reports and review.

Pediatr Dermatol 2019 May 27;36(3):355-359. Epub 2019 Feb 27.

Department of Dermatology, General University Hospital of Alicante, Healthcare and Biomedical Research Institute of Alicante (ISABIAL), Alicante, Spain.

We report three cases of patients with pseudohypoparathyroidism or pseudopseudohypoparathyroidism. These diseases are considered GNAS inactivating mutation syndromes that are characterized by a diversity of alterations among which a particular phenotype and specific endocrine or ossification abnormalities may be found. These patients may present with hard cutaneous nodules, which can represent osteoma cutis. Read More

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http://dx.doi.org/10.1111/pde.13769DOI Listing
May 2019
9 Reads

Three cases of transient neonatal pseudohypoparathyroidism.

Sudan J Paediatr 2018 ;18(2):42-47

Department of Clinical Biochemistry, Klatovy Hospital, Klatovy, Czech Republic.

Neonatal hypocalcemia is defined as serum calcium (S-Ca) < 2.0 mmol/l in full-term newborns and <1.75 mmol/l in preterm newborns. Read More

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https://www.ejmanager.com/fulltextpdf.php?mno=289314
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http://dx.doi.org/10.24911/SJP.106-1516889879DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6378568PMC
January 2018
30 Reads

Unrecognized Pseudohypoparathyroidism Type 1A as a Cause of Hypocalcemia and Seizures in a 64-Year-Old Woman.

Case Rep Endocrinol 2019 9;2019:8456239. Epub 2019 Jan 9.

Department of Health Sciences, University of Genoa; Medical Genetics Unit, Galliera Hospital, Genoa, Italy.

Pseudohypoparathyroidism type 1A (PHP1A) is usually diagnosed in childhood or early adulthood. We describe the case of a 64-year-old woman admitted to the Neurological Unit for recurrent episodes of loss of consciousness and seizures. Glycemia and ECG were normal, while hypocalcemia was noted. Read More

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http://dx.doi.org/10.1155/2019/8456239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343178PMC
January 2019
8 Reads

Hypercalcitoninaemia in pseudohypo-parathyroidism type 1A and type 1B.

Endocrinol Diabetes Metab Case Rep 2019 Jan 31;2019. Epub 2019 Jan 31.

1st Department of Internal Medicine, AHEPA University Hospital, Thessaloniki, Greece.

Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterised by normal renal function and renal resistance to the action of the parathyroid hormone. Type 1A (PHP1A), which is the most common variant, also include developmental and skeletal defects named as Albright hereditary osteodystrophy (AHO). We present two cases, a 54- and a 33-year-old male diagnosed with PHP who were referred to us for persistently high levels of serum calcitonin. Read More

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http://dx.doi.org/10.1530/EDM-18-0125DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365682PMC
January 2019
15 Reads

Language delay and developmental catch-up would be a clinical feature of pseudohypoparathyroidism type 1A during childhood.

Endocr J 2019 Mar 23;66(3):215-221. Epub 2019 Jan 23.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo 113-8510, Japan.

Pseudohypoparathyroidism type 1A (PHP1A) is characterized by resistance to multiple hormones, the Albright Hereditary Osteodystrophy phenotype, obesity, and developmental delay. Developmental delay usually appears prior to hypocalcemia due to parathyroid hormone resistance and could be a clinically important feature for early diagnosis of PHP1A. To date, however, the details have not been documented. Read More

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http://dx.doi.org/10.1507/endocrj.EJ18-0326DOI Listing
March 2019
7 Reads

Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs).

Best Pract Res Clin Endocrinol Metab 2018 12 28;32(6):941-954. Epub 2018 Sep 28.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy. Electronic address:

Metabolic disorders caused by impairments of the Gsα/cAMP/PKA pathway affecting the signaling of PTH/PTHrP lead to features caused by non-responsiveness of target organs, in turn leading to manifestations similar to the deficiency of the hormone itself. Pseudohypoparathyroidism (PHP) and related disorders derive from a defect of the α subunit of the stimulatory G protein (Gsα) or of downstream effectors of the same pathway, such as the PKA regulatory subunit 1A and the phosphodiesterase type 4D. The increasing knowledge on these diseases made the actual classification of PHP outdated as it does not include related conditions such as acrodysostosis (ACRDYS) or progressive osseous heteroplasia (POH), so that a new nomenclature and classification has been recently proposed grouping these disorders under the term "inactivating PTH/PTHrP signaling disorder" (iPPSD). Read More

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http://dx.doi.org/10.1016/j.beem.2018.09.008DOI Listing
December 2018
23 Reads

Inactivating PTH/PTHrP Signaling Disorders.

Front Horm Res 2019 19;51:147-159. Epub 2018 Nov 19.

Pseudohypoparathyroidism (PHP), pseudo-PHP, acrodysostosis, and progressive osseous heteroplasia are heterogeneous disorders characterized by physical findings, differently associated in each subtype, including short bones, short stature, a stocky build, ectopic ossifications (features associated with Albright's hereditary osteodystrophy), as well as laboratory abnormalities consistent with hormone resistance, such as hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) and thyroid-stimulating hormone levels. All these disorders are caused by impairments in the cAMP-mediated signal transduction pathway and, in particular, in the PTH/PTHrP signaling pathway: the main subtypes of PHP and related disorders are caused by de novo or autosomal dominantly inherited inactivating genetic mutations, and/or epigenetic, sporadic, or genetic-based alterations within or upstream of GNAS, PRKAR1A, PDE4D, and PDE3A. Here we will review the impressive progress that has been made over the past 30 years on the pathophysiology of these diseases and will describe the recently proposed novel nomenclature and classification. Read More

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http://dx.doi.org/10.1159/000491045DOI Listing
April 2019
24 Reads

Association of GNAS imprinting defects and deletions of chromosome 2 in two patients: clues explaining phenotypic heterogeneity in pseudohypoparathyroidism type 1B/iPPSD3.

Clin Epigenetics 2019 01 7;11(1). Epub 2019 Jan 7.

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Endocrinology Unit, Milan, Italy.

Background: The term pseudohypoparathyroidism (PHP) describes disorders derived from resistance to the parathyroid hormone. Albright hereditary osteodystrophy (AHO) is a disorder with several physical features that can occur alone or in association with PHP. The subtype 1B, classically associated with resistance to PTH and TSH, derives from the epigenetic dysregulation of the GNAS locus. Read More

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http://dx.doi.org/10.1186/s13148-018-0607-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6322333PMC
January 2019
10 Reads

[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders].

An Pediatr (Barc) 2019 Feb 24;90(2):125.e1-125.e12. Epub 2018 Dec 24.

Grupo de Investigación de Enfermedades Raras, Laboratorio de (Epi)Genética Molecular, Instituto de Investigación Sanitaria BioAraba, OSI Araba-Txagorritxu, Vitoria-Gasteiz, España.

Since Albright and co-workers described pseudohypoparathyroidism in 1942 as the combined presence of hypocalcaemia and hyperphosphataemia associated with the existence of tissue resistance to parathyroid hormone (PTH) action upon normal renal function, great advances have been made in the clinical and genetic profile of patients affected by this condition. Furthermore, not only have genetic bases of pseudohypoparathyroidism been unravelled, but also variants in other genes involved in the PTH/PTHrP signalling pathway through Gsα, have been identified as the cause of diseases that share clinical features with pseudohypoparathyroidism. In the paediatric setting, the first symptoms suggesting the impairment of this signalling pathway are the presence of subcutaneous ossifications, brachydactyly and/or early onset obesity, followed by the possible development of PTH resistance. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S16954033183054
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http://dx.doi.org/10.1016/j.anpedi.2018.11.014DOI Listing
February 2019
38 Reads